A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients
Brajadenta, Gara Samara, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Kitzis, Alain, Thoreau, Vincent
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders
Lewis, Sara A, Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R, Kruer, Michael C
Published in Disease models & mechanisms (01.09.2023)
Published in Disease models & mechanisms (01.09.2023)
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Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3
Hizem, Syrine, Maamouri, Rym, Zaouak, Anissa, Rejeb, Imen, Karoui, Sana, Sebai, Molka, Jilani, Houweyda, Elaribi, Yasmina, Fenniche, Sami, Cheour, Monia, Bilan, Frédéric, Ben Jemaa, Lamia
Published in Ophthalmic genetics (01.02.2024)
Published in Ophthalmic genetics (01.02.2024)
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Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients
Abadie, Véronique, Hamiaux, Priscilla, Ragot, Stéphanie, Legendre, Marine, Malecot, Gaelle, Burtin, Alexia, Attie-Bitach, Tania, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Vaivre-Douret, Laurence
Published in Orphanet journal of rare diseases (03.06.2020)
Published in Orphanet journal of rare diseases (03.06.2020)
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François
Published in Human genetics (01.01.2022)
Published in Human genetics (01.01.2022)
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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael
Published in Human molecular genetics (04.07.2023)
Published in Human molecular genetics (04.07.2023)
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Penetrance, variable expressivity and monogenic neurodevelopmental disorders
de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, Isidor, Bertrand
Published in European journal of medical genetics (01.06.2024)
Published in European journal of medical genetics (01.06.2024)
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Béna, Frédérique, Bruno, Damien L., Eriksson, Mats, van Ravenswaaij-Arts, Conny, Stark, Zornitza, Dijkhuizen, Trijnie, Gerkes, Erica, Gimelli, Stefania, Ganesamoorthy, Devika, Thuresson, Ann Charlotte, Labalme, Audrey, Till, Marianne, Bilan, Frédéric, Pasquier, Laurent, Kitzis, Alain, Dubourgm, Christele, Rossi, Massimiliano, Bottani, Armand, Gagnebin, Maryline, Sanlaville, Damien, Gilbert-Dussardier, Brigitte, Guipponi, Michel, van Haeringen, Arie, Kriek, Marjolein, Ruivenkamp, Claudia, Antonarakis, Stylianos E., Anderlid, Britt Marie, Slater, Howard R., Schoumans, Jacqueline
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2013)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2013)
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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Le Gall, Jessica, Nizon, Mathilde, Pichon, Olivier, Andrieux, Joris, Audebert-Bellanger, Séverine, Baron, Sabine, Beneteau, Claire, Bilan, Frédéric, Boute, Odile, Busa, Tiffany, Cormier-Daire, Valérie, Ferec, Claude, Fradin, Mélanie, Gilbert-Dussardier, Brigitte, Jaillard, Sylvie, Jønch, Aia, Martin-Coignard, Dominique, Mercier, Sandra, Moutton, Sébastien, Rooryck, Caroline, Schaefer, Elise, Vincent, Marie, Sanlaville, Damien, Le Caignec, Cédric, Jacquemont, Sébastien, David, Albert, Isidor, Bertrand
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
Vanlerberghe, Clémence, Petit, Florence, Malan, Valérie, Vincent-Delorme, Catherine, Bouquillon, Sonia, Boute, Odile, Holder-Espinasse, Muriel, Delobel, Bruno, Duban, Bénédicte, Vallee, Louis, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Vantyghem, Marie-Christine, Pigeyre, Marie, Lanco-Dosen, Sandrine, Plessis, Ghislaine, Gerard, Marion, Decamp, Matthieu, Mathieu, Michèle, Morin, Gilles, Jedraszak, Guillaume, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Fauvert, Delphine, Roume, Joëlle, Cormier-Daire, Valérie, Caumes, Roseline, Puechberty, Jacques, Genevieve, David, Sarda, Pierre, Pinson, Lucie, Blanchet, Patricia, Lemeur, Nathalie, Sheth, Frenny, Manouvrier-Hanu, Sylvie, Andrieux, Joris
Published in European journal of medical genetics (01.03.2015)
Published in European journal of medical genetics (01.03.2015)
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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
Legendre, Marine, Rodriguez-Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, Bilan, Frédéric
Published in European journal of human genetics : EJHG (01.02.2018)
Published in European journal of human genetics : EJHG (01.02.2018)
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Journal Article
Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Published in Orphanet journal of rare diseases (22.07.2016)
Published in Orphanet journal of rare diseases (22.07.2016)
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Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion
Harbuz, Radu, Bilan, Frédéric, Couet, Dominique, Charraud, Valérie, Kitzis, Alain, Gilbert-Dussardier, Brigitte
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
Legendre, Marine, Gonzales, Marie, Goudefroye, Géraldine, Bilan, Frédéric, Parisot, Pauline, Perez, Marie-José, Bonnière, Maryse, Bessières, Bettina, Martinovic, Jelena, Delezoide, Anne-Lise, Jossic, Frédérique, Fallet-Bianco, Catherine, Bucourt, Martine, Tantau, Julia, Loget, Philippe, Loeuillet, Laurence, Laurent, Nicole, Leroy, Brigitte, Salhi, Houria, Bigi, Nicole, Rouleau, Caroline, Guimiot, Fabien, Quélin, Chloé, Bazin, Anne, Alby, Caroline, Ichkou, Amale, Gesny, Roselyne, Kitzis, Alain, Ville, Yves, Lyonnet, Stanislas, Razavi, Ferechte, Gilbert-Dussardier, Brigitte, Vekemans, Michel, Attié-Bitach, Tania
Published in Journal of medical genetics (01.11.2012)
Published in Journal of medical genetics (01.11.2012)
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Journal Article
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent
Published in Annals of laboratory medicine (01.09.2019)
Published in Annals of laboratory medicine (01.09.2019)
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A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma
Zemmoura, Ilyess, Vourc'h, Patrick, Paubel, Agathe, Parfait, Béatrice, Cohen, Joëlle, Bilan, Frédéric, Kitzis, Alain, Rousselot, Cécilia, Parker, Fabrice, François, Patrick, Andres, Christian R
Published in Neuro-oncology (Charlottesville, Va.) (01.01.2014)
Published in Neuro-oncology (Charlottesville, Va.) (01.01.2014)
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Proteasome-Dependent Pharmacological Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Revealed by Mutation of Glycine 622
Norez, Caroline, Bilan, Frédéric, Kitzis, Alain, Mettey, Yvette, Becq, Frédéric
Published in The Journal of pharmacology and experimental therapeutics (01.04.2008)
Published in The Journal of pharmacology and experimental therapeutics (01.04.2008)
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Journal Article
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis
Bilan, Frédéric, Legendre, Marine, Charraud, Valérie, Manière, Barbara, Couet, Dominique, Gilbert-Dussardier, Brigitte, Kitzis, Alain
Published in The Journal of molecular diagnostics : JMD (01.01.2012)
Published in The Journal of molecular diagnostics : JMD (01.01.2012)
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Journal Article
1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number
Xavier, Jean, Zhou, Bo, Bilan, Frédéric, Zhang, Xianglong, Gilbert-Dussardier, Brigitte, Viaux-Savelon, Sylvie, Pattni, Reenal, Ho, Steve S., Cohen, David, Levinson, Douglas F., Urban, Alexander E., Laurent-Levinson, Claudine
Published in Npj genomic medicine (22.08.2018)
Published in Npj genomic medicine (22.08.2018)
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Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells
Bilan, Frédéric, Nacfer, Magali, Fresquet, Fleur, Norez, Caroline, Melin, Patricia, Martin-Berge, Alice, Costa de Beauregard, Marie-Alyette, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent
Published in Experimental cell research (01.07.2008)
Published in Experimental cell research (01.07.2008)
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